ClinVar Miner

List of variants reported as likely benign for Cornelia de Lange syndrome 3 by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.*17A>G rs199611616 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 0.00002
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2268+13A>G rs755422141

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